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  • Title: Pedigree analysis and descriptive investigation of three classic phenotypes associated with Holt-Oram syndrome.
    Author: Lehner R, Goharkhay N, Tringler B, Fasching C, Hengstschläger M.
    Journal: J Reprod Med; 2003 Mar; 48(3):153-9. PubMed ID: 12698771.
    Abstract:
    OBJECTIVE: To determine the frequency of sporadic and familial cases of three classic phenotypes associated with Holt-Oran syndrome (HOS). STUDY DESIGN: We determined the frequency of sporadic and familial cases based on the 179 patients with HOS reported in the literature. RESULTS: Clinically, there are three variations of HOS: affected individuals may have only skeletal anomalies (27.4%), only cardiac defects (3.9%) or both (68.7%). Of the 179 affected individuals, 17.3% had sporadic and 82.7% had familial disease. CONCLUSION: The equal distribution between the sexes (female 53%, male 47%) indicates that HOS is transmitted as an autosomal dominant trait. In contrast to familial cases, cardiac involvement alone was not reported in any of the sporadic cases. When a cardiac malformation is diagnosed, the family members of the affected individual should be carefully screened for Holt-Oram syndrome.
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